메뉴 건너뛰기




Volumn 212, Issue 2, 1996, Pages 116-127

Regulation of the hypoxanthine phosphoribosyltransferase gene: In vitro and in vivo approaches

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; TRANSCRIPTION FACTOR AP 2; TRANSCRIPTION FACTOR SP1;

EID: 0029950881     PISSN: 00379727     EISSN: None     Source Type: Journal    
DOI: 10.3181/00379727-212-43998     Document Type: Short Survey
Times cited : (16)

References (141)
  • 3
    • 0021659679 scopus 로고
    • Human dihydrofolate reductase gene organization. Extensive conservation of the G + C-rich 5′ non-coding sequence and strong intron size divergence from homologous mammalian genes
    • Yang JK, Masters JN, Attardi G. Human dihydrofolate reductase gene organization. Extensive conservation of the G + C-rich 5′ non-coding sequence and strong intron size divergence from homologous mammalian genes. J Mol Biol 176:169-187, 1984.
    • (1984) J Mol Biol , vol.176 , pp. 169-187
    • Yang, J.K.1    Masters, J.N.2    Attardi, G.3
  • 4
    • 0021807101 scopus 로고
    • Analysis of the mouse DHFR promoter region: Existence of a divergently transcribed gene
    • Crouse GF, Leys EJ, McEwan RN, Frayne EG, Kellems RE. Analysis of the mouse DHFR promoter region: Existence of a divergently transcribed gene. Mol Cell Biol 5:1847-1858, 1985.
    • (1985) Mol Cell Biol , vol.5 , pp. 1847-1858
    • Crouse, G.F.1    Leys, E.J.2    McEwan, R.N.3    Frayne, E.G.4    Kellems, R.E.5
  • 5
    • 0021996713 scopus 로고
    • Heterogeneity at the 5' termini of mouse dihydrofolate reductase mRNAs. Evidence for multiple promoter regions
    • McGrogan M, Simonsen CC, Smouse DT, Farnham PJ, Schimke RT. Heterogeneity at the 5' termini of mouse dihydrofolate reductase mRNAs. Evidence for multiple promoter regions. J Biol Chem 260:2307-2314, 1985.
    • (1985) J Biol Chem , vol.260 , pp. 2307-2314
    • McGrogan, M.1    Simonsen, C.C.2    Smouse, D.T.3    Farnham, P.J.4    Schimke, R.T.5
  • 7
    • 46149138429 scopus 로고
    • Promoters for housekeeping genes
    • Dynan WS. Promoters for housekeeping genes. Trends Genet 2:196-197, 1986.
    • (1986) Trends Genet , vol.2 , pp. 196-197
    • Dynan, W.S.1
  • 8
    • 0023429222 scopus 로고
    • Strategies and mechanisms for the control of transcriptional initiation of mammalian protein-coding genes
    • Melton DW. Strategies and mechanisms for the control of transcriptional initiation of mammalian protein-coding genes. J Cell Sci 88:267-270, 1987.
    • (1987) J Cell Sci , vol.88 , pp. 267-270
    • Melton, D.W.1
  • 9
    • 0014222377 scopus 로고
    • Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis
    • Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 155:1682-1684, 1967.
    • (1967) Science , vol.155 , pp. 1682-1684
    • Seegmiller, J.E.1    Rosenbloom, F.M.2    Kelley, W.N.3
  • 10
    • 0015549147 scopus 로고
    • The Lesch-Nyhan syndrome
    • Nyhan WL. The Lesch-Nyhan syndrome. Annu Rev Med 24:41-60, 1973.
    • (1973) Annu Rev Med , vol.24 , pp. 41-60
    • Nyhan, W.L.1
  • 11
    • 0015616596 scopus 로고
    • The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Emmerson BT, Thompson L. The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency. Q J Med 166:423-440, 1973.
    • (1973) Q J Med , vol.166 , pp. 423-440
    • Emmerson, B.T.1    Thompson, L.2
  • 12
    • 0020364784 scopus 로고
    • Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations
    • Watts RWE, Spellacy E, Gibbs DA, Allsop J, McKeran RO, Slavin GE. Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. Q J Med 201:43-78, 1982.
    • (1982) Q J Med , vol.201 , pp. 43-78
    • Rwe, W.1    Spellacy, E.2    Gibbs, D.A.3    Allsop, J.4    McKeran, R.O.5    Slavin, G.E.6
  • 13
    • 0023645070 scopus 로고
    • Regulation of inducible and tissue-specific gene expression
    • Maniatis T, Goodbourn S, Fischer JA. Regulation of inducible and tissue-specific gene expression. Science 236:1237-1245, 1987.
    • (1987) Science , vol.236 , pp. 1237-1245
    • Maniatis, T.1    Goodbourn, S.2    Fischer, J.A.3
  • 15
    • 0015288666 scopus 로고
    • Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population
    • Yu TF, Balis ME, Krenitsky TA, Dancis J, Silvers DN, Elion GB, Gutman AB. Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population. Ann Intern Med 76:255-264, 1972.
    • (1972) Ann Intern Med , vol.76 , pp. 255-264
    • Yu, T.F.1    Balis, M.E.2    Krenitsky, T.A.3    Dancis, J.4    Silvers, D.N.5    Elion, G.B.6    Gutman, A.B.7
  • 17
    • 0002705869 scopus 로고
    • Diseases of purine and pyrimidine metabolism
    • Bondy PK, Rosenberg LE, Eds. Philadelphia: W. B. Saunders
    • Seegmiller JE. Diseases of purine and pyrimidine metabolism. In: Bondy PK, Rosenberg LE, Eds. Metabolic Control and Disease (8th ed). Philadelphia: W. B. Saunders, pp777-937, 1980.
    • (1980) Metabolic Control and Disease (8th Ed) , pp. 777-937
    • Seegmiller, J.E.1
  • 18
    • 0014721083 scopus 로고
    • Nucleotide biosynthesis from performed purines in mammalian cells: Regulatory mechanisms and biological significance
    • Murray AW, Elliott DC, Atkinson MR. Nucleotide biosynthesis from performed purines in mammalian cells: Regulatory mechanisms and biological significance. Prog Nucleic Acid Res Mol Biol 10:87-119, 1970.
    • (1970) Prog Nucleic Acid Res Mol Biol , vol.10 , pp. 87-119
    • Murray, A.W.1    Elliott, D.C.2    Atkinson, M.R.3
  • 19
    • 0015180175 scopus 로고
    • The biological significance of purine salvage
    • Murray AW. The biological significance of purine salvage. Annu Rev Biochem 40:811-826, 1971.
    • (1971) Annu Rev Biochem , vol.40 , pp. 811-826
    • Murray, A.W.1
  • 21
    • 0024537586 scopus 로고
    • Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyltransferase deficiency: Evidence for an increased contribution of purine byosinthesis de novo
    • Puig JG, Jimenez MJ, Mateos FA, Fox IH. Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyltransferase deficiency: Evidence for an increased contribution of purine byosinthesis de novo. Metabolism 38:410-418, 1989.
    • (1989) Metabolism , vol.38 , pp. 410-418
    • Puig, J.G.1    Jimenez, M.J.2    Mateos, F.A.3    Fox, I.H.4
  • 22
    • 0000075362 scopus 로고
    • Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males
    • Hoefnagel D, Andrew ED, Mireault NG, Berndt WO. Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males. N Engl J Med 273:130-135, 1965.
    • (1965) N Engl J Med , vol.273 , pp. 130-135
    • Hoefnagel, D.1    Andrew, E.D.2    Mireault, N.G.3    Berndt, W.O.4
  • 24
    • 0002086579 scopus 로고
    • Genetics of an X-linked disorder of uric acid metabolism and cerebral function
    • Nyhan WL, Pesek J, Sweetman L, Carpenter DG, Carter CH. Genetics of an X-linked disorder of uric acid metabolism and cerebral function. Pediatr Res 1:5-13, 1967.
    • (1967) Pediatr Res , vol.1 , pp. 5-13
    • Nyhan, W.L.1    Pesek, J.2    Sweetman, L.3    Carpenter, D.G.4    Carter, C.H.5
  • 25
    • 0015340349 scopus 로고
    • Diagnosis and treatment of the Lesch-Nyhan syndrome
    • Crawhall JC, Henderson JF, Kelley WN. Diagnosis and treatment of the Lesch-Nyhan syndrome. Pediatr Res 6:504-513, 1972.
    • (1972) Pediatr Res , vol.6 , pp. 504-513
    • Crawhall, J.C.1    Henderson, J.F.2    Kelley, W.N.3
  • 26
    • 0001168164 scopus 로고
    • A familial disorder of uric acid metabolism and central nervous system dysfunction
    • Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system dysfunction. Am J Med 36:561-570, 1964.
    • (1964) Am J Med , vol.36 , pp. 561-570
    • Lesch, M.1    Nyhan, W.L.2
  • 27
    • 0014429313 scopus 로고
    • Biochemical basis of accelerated purine synthesis de novo in human fibroblasts lacking hypoxanthine-gluanine phosphoribosyltransferase
    • Rosenbloom FM, Henderson JF, Caldwell IC, Kelley WN, Seegmiller JE. Biochemical basis of accelerated purine synthesis de novo in human fibroblasts lacking hypoxanthine-gluanine phosphoribosyltransferase. J Biol Chem 243:1166-1177, 1968.
    • (1968) J Biol Chem , vol.243 , pp. 1166-1177
    • Rosenbloom, F.M.1    Henderson, J.F.2    Caldwell, I.C.3    Kelley, W.N.4    Seegmiller, J.E.5
  • 28
    • 0017084888 scopus 로고
    • Hypoxanthine-guanine phosphoribosyltransferase mutant glioma cells: Diminished monamine oxidase activity
    • Skaper SD, Seegmiller JE. Hypoxanthine-guanine phosphoribosyltransferase mutant glioma cells: Diminished monamine oxidase activity. Science 194:1171-1173, 1976.
    • (1976) Science , vol.194 , pp. 1171-1173
    • Skaper, S.D.1    Seegmiller, J.E.2
  • 31
    • 0023888809 scopus 로고
    • Lesch-Nyhan syndrome: A study of motor behavior and cerebrospinal fluid neurotransmitters
    • Jankovic J, Caskey TC, Stout JT, Butler IJ. Lesch-Nyhan syndrome: A study of motor behavior and cerebrospinal fluid neurotransmitters. Ann Neurol 23:466-469, 1988.
    • (1988) Ann Neurol , vol.23 , pp. 466-469
    • Jankovic, J.1    Caskey, T.C.2    Stout, J.T.3    Butler, I.J.4
  • 32
    • 0014217740 scopus 로고
    • Urinary metabolites in congenital hyperuricosuria
    • Balis ME, Krakoff IH, Berman PH, Dancis J. Urinary metabolites in congenital hyperuricosuria. Science 156:1122-1123, 1967.
    • (1967) Science , vol.156 , pp. 1122-1123
    • Balis, M.E.1    Krakoff, I.H.2    Berman, P.H.3    Dancis, J.4
  • 33
    • 0014310210 scopus 로고
    • Seminars on Lesch-Nyhan syndrome. Aspects of purine metabolism
    • Balis ME. Seminars on Lesch-Nyhan syndrome. Aspects of purine metabolism. Fed Proc 27:1067-1074, 1968.
    • (1968) Fed Proc , vol.27 , pp. 1067-1074
    • Balis, M.E.1
  • 34
    • 0343417165 scopus 로고
    • The regulation of activity of phosphoribosylepryophosphate amidotransferase by purine ribonucleotides: A potential feedback control of purine biosynthesis
    • Wyngaarden JB, Ashton DM. The regulation of activity of phosphoribosylepryophosphate amidotransferase by purine ribonucleotides: A potential feedback control of purine biosynthesis. J Biol Chem 234:1492-1496, 1959.
    • (1959) J Biol Chem , vol.234 , pp. 1492-1496
    • Wyngaarden, J.B.1    Ashton, D.M.2
  • 35
    • 3042983493 scopus 로고
    • Purification and characterization of human amidophosphoribosyltransferase
    • Udom A, Holmes EW. Purification and characterization of human amidophosphoribosyltransferase. J Clin Chem Clin Biochem 20:428, 1982.
    • (1982) J Clin Chem Clin Biochem , vol.20 , pp. 428
    • Udom, A.1    Holmes, E.W.2
  • 36
    • 0027287356 scopus 로고
    • Brain purities in a genetic mouse model of Lesch-Nyhan disease
    • Jinnah HA, Page T, Friedman T. Brain purities in a genetic mouse model of Lesch-Nyhan disease. J Neurochem 60:2036-2045, 1993.
    • (1993) J Neurochem , vol.60 , pp. 2036-2045
    • Jinnah, H.A.1    Page, T.2    Friedman, T.3
  • 38
    • 0021879676 scopus 로고
    • The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome
    • Baumeister AA, Frye GD. The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome. Neurosci Biobehav Rev 9:169-178, 1985.
    • (1985) Neurosci Biobehav Rev , vol.9 , pp. 169-178
    • Baumeister, A.A.1    Frye, G.D.2
  • 39
    • 0024450903 scopus 로고
    • The functional anatomy of basal ganglia disorders
    • Alpin RL, Young AB, Penney JB. The functional anatomy of basal ganglia disorders. Trends Neurosci 12:366-375, 1987.
    • (1987) Trends Neurosci , vol.12 , pp. 366-375
    • Alpin, R.L.1    Young, A.B.2    Penney, J.B.3
  • 40
    • 0002980254 scopus 로고
    • Hypoxanthine phosphoribosyltransferase deficiency: The Lesch-Nyhan syndrome and gouty arthritis
    • Scriver CR, Beaudet AL, Sly WS, Valle D. Eds. New York: McGraw-Hill
    • Stout JT, Caskey CT. Hypoxanthine phosphoribosyltransferase deficiency: The Lesch-Nyhan syndrome and gouty arthritis. In: Scriver CR, Beaudet AL, Sly WS, Valle D. Eds. The Metabolic Basis of Inherited Disease (6th ed). New York: McGraw-Hill, pp1007-1028, 1989.
    • (1989) The Metabolic Basis of Inherited Disease (6th Ed) , pp. 1007-1028
    • Stout, J.T.1    Caskey, C.T.2
  • 41
    • 0014311917 scopus 로고
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout
    • Kelley WN. Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout. Fed Proc 27:1047-1052, 1968.
    • (1968) Fed Proc , vol.27 , pp. 1047-1052
    • Kelley, W.N.1
  • 42
    • 0001127049 scopus 로고
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. New York: McGraw-Hill
    • Rossiter BJF, Caskey CT. Hypoxanthine-guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Bases of Inherited Disease (7th ed). New York: McGraw-Hill, pp1679-1706, 1995.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease (7th Ed) , pp. 1679-1706
    • Rossiter, B.J.F.1    Caskey, C.T.2
  • 43
    • 0027176421 scopus 로고
    • In vivo mutation at the human HPRT locus
    • Cariello NF, Skopek TR. In vivo mutation at the human HPRT locus. Trends Genet 9:322-326, 1993.
    • (1993) Trends Genet , vol.9 , pp. 322-326
    • Cariello, N.F.1    Skopek, T.R.2
  • 44
    • 0026591855 scopus 로고
    • A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
    • Sculley DG, Dawson PA, Emmerson BT, Gordon RB. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet 90:195-207, 1992.
    • (1992) Hum Genet , vol.90 , pp. 195-207
    • Sculley, D.G.1    Dawson, P.A.2    Emmerson, B.T.3    Gordon, R.B.4
  • 45
    • 0027102048 scopus 로고
    • A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: Missense mutations within a functionally important region probably cause disease
    • Fujimori S, Tagaya T, Kamatani N, Akaoka I. A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: Missense mutations within a functionally important region probably cause disease. Hum Genet 90:385-388, 1992.
    • (1992) Hum Genet , vol.90 , pp. 385-388
    • Fujimori, S.1    Tagaya, T.2    Kamatani, N.3    Akaoka, I.4
  • 46
    • 0027050035 scopus 로고
    • Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency
    • Yamada Y, Goto H, Suzumori K, Adachi R, Ogasawara N. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet 90:379-384, 1992.
    • (1992) Hum Genet , vol.90 , pp. 379-384
    • Yamada, Y.1    Goto, H.2    Suzumori, K.3    Adachi, R.4    Ogasawara, N.5
  • 48
    • 0027131268 scopus 로고
    • Molecular analysis of the mutations in five unrelated patients with the Lesch-Nyhan syndrome
    • Marcus S, Christensen E, Malm G. Molecular analysis of the mutations in five unrelated patients with the Lesch-Nyhan syndrome. Hum Mutat 24:473-477, 1993.
    • (1993) Hum Mutat , vol.24 , pp. 473-477
    • Marcus, S.1    Christensen, E.2    Malm, G.3
  • 49
    • 0028049335 scopus 로고
    • Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line
    • Tohyama J, Nanba E, Ohno K. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line. Hum Genet 93:175-181, 1994.
    • (1994) Hum Genet , vol.93 , pp. 175-181
    • Tohyama, J.1    Nanba, E.2    Ohno, K.3
  • 50
    • 0026650140 scopus 로고
    • Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests
    • Marcus S, Steen AM, Andersson B, Lambert B, Kristoffersson U, Francke U. Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests. Hum Genet 89:395-100, 1992.
    • (1992) Hum Genet , vol.89 , pp. 395-1100
    • Marcus, S.1    Steen, A.M.2    Andersson, B.3    Lambert, B.4    Kristoffersson, U.5    Francke, U.6
  • 51
    • 0026920426 scopus 로고
    • Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency
    • Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum Mol Genet 1:427-432, 1992.
    • (1992) Hum Mol Genet , vol.1 , pp. 427-432
    • Sege-Peterson, K.1    Chambers, J.2    Page, T.3    Jones, O.W.4    Nyhan, W.L.5
  • 53
    • 0027958632 scopus 로고
    • Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome
    • Fuscoe JC, Nelsen AJ. Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome. Hum Mol Genet 3:199-200, 1994.
    • (1994) Hum Mol Genet , vol.3 , pp. 199-200
    • Fuscoe, J.C.1    Nelsen, A.J.2
  • 54
    • 0027401877 scopus 로고
    • Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome
    • Marcus S, Hellgren D, Lambert B, Fallstrom SP, Wahlstrom J. Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome. Hum Genet 90:477-482, 1993.
    • (1993) Hum Genet , vol.90 , pp. 477-482
    • Marcus, S.1    Hellgren, D.2    Lambert, B.3    Fallstrom, S.P.4    Wahlstrom, J.5
  • 55
    • 77951509701 scopus 로고
    • The rate of spontaneous mutation of a human gene
    • Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet 31:317, 1935.
    • (1935) J Genet , vol.31 , pp. 317
    • Haldane, J.B.S.1
  • 56
    • 0006519827 scopus 로고
    • Use of carrier detection tests to estimate male to female ratio of mutation rates in Lesch-Nyhan disease
    • Hook EB, Porter IH, Eds. New York: Academic Press
    • Francke U, Winter RM, Lin D, Bakay B, Seegmiller JE, Nyhan WL. Use of carrier detection tests to estimate male to female ratio of mutation rates in Lesch-Nyhan disease. In: Hook EB, Porter IH, Eds. Population and Biological Aspects of Human Mutation. New York: Academic Press, pp117-130, 1981.
    • (1981) Population and Biological Aspects of Human Mutation , pp. 117-130
    • Francke, U.1    Winter, R.M.2    Lin, D.3    Bakay, B.4    Seegmiller, J.E.5    Nyhan, W.L.6
  • 59
    • 0026323449 scopus 로고
    • HPRT gene mutations in a female Lesch-Nyhan patient
    • Ogasawara N, Yamada Y, Goto H. HPRT gene mutations in a female Lesch-Nyhan patient. Adv Exp Med Biol 309B:109-112, 1991.
    • (1991) Adv Exp Med Biol , vol.309 B , pp. 109-112
    • Ogasawara, N.1    Yamada, Y.2    Goto, H.3
  • 60
    • 0020491161 scopus 로고
    • Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme
    • Wilson JM, Tarr GE, Mahoney WC, Kelly WN. Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme. J Biol Chem 257:10978-10985, 1982.
    • (1982) J Biol Chem , vol.257 , pp. 10978-10985
    • Wilson, J.M.1    Tarr, G.E.2    Mahoney, W.C.3    Kelly, W.N.4
  • 61
    • 0020480667 scopus 로고
    • Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: Construction and sequence analysis of cDNA recombinants
    • Konecki DS, Brennand J, Fuscoe JC, Caskey CT, Chinault AC. Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: Construction and sequence analysis of cDNA recombinants. Nucleic Acids Res 10:6763-6775, 1982.
    • (1982) Nucleic Acids Res , vol.10 , pp. 6763-6775
    • Konecki, D.S.1    Brennand, J.2    Fuscoe, J.C.3    Caskey, C.T.4    Chinault, A.C.5
  • 63
    • 0025309616 scopus 로고
    • Molecular scanning methods of mutation detection
    • Rossiter BJF, Caskey CTC. Molecular scanning methods of mutation detection. J Biol Chem 265:12753-12756, 1990.
    • (1990) J Biol Chem , vol.265 , pp. 12753-12756
    • Bjf, R.1    Ctc, C.2
  • 64
    • 0026352964 scopus 로고
    • Rat hypoxanthine phosphoribosyltransferase cDNA cloning and sequence analysis
    • Chiaverotti TA, Battula N, Monnat RJ Jr. Rat hypoxanthine phosphoribosyltransferase cDNA cloning and sequence analysis. Adv Exp Med Biol 309B:117-120, 1991.
    • (1991) Adv Exp Med Biol , vol.309 B , pp. 117-120
    • Chiaverotti, T.A.1    Battula, N.2    Monnat Jr., R.J.3
  • 66
    • 0017152088 scopus 로고
    • Developmental changes in purine phosphoribosyltransferases in human and rat tissues
    • Adams A, Harkness RA. Developmental changes in purine phosphoribosyltransferases in human and rat tissues. Biochem J 160:565-576, 1976.
    • (1976) Biochem J , vol.160 , pp. 565-576
    • Adams, A.1    Harkness, R.A.2
  • 67
    • 0014687540 scopus 로고
    • Tissue distribution of purine ribosyl- And phosphoribosyltransferases in the Rhesus monkey
    • Krenitsky TA. Tissue distribution of purine ribosyl- and phosphoribosyltransferases in the Rhesus monkey. Biochim Biophys Acta 179:506-509, 1969.
    • (1969) Biochim Biophys Acta , vol.179 , pp. 506-509
    • Krenitsky, T.A.1
  • 68
    • 0013946807 scopus 로고
    • Inhibition of purine phosphoribosyltransferases from Ehrlich ascites-tumor cells by purine nucleotides
    • Murray AW. Inhibition of purine phosphoribosyltransferases from Ehrlich ascites-tumor cells by purine nucleotides. Biochem J 100:671-674, 1966.
    • (1966) Biochem J , vol.100 , pp. 671-674
    • Murray, A.W.1
  • 69
    • 0018641308 scopus 로고
    • Developmental expression of murine HPRT. I. Activities, heat stabilities, and electrophoretic mobilities in adult tissues
    • Lo YV, Palmour RM. Developmental expression of murine HPRT. I. Activities, heat stabilities, and electrophoretic mobilities in adult tissues. Biochem Genet 17:737-746, 1979.
    • (1979) Biochem Genet , vol.17 , pp. 737-746
    • Lo, Y.V.1    Palmour, R.M.2
  • 70
    • 0025034545 scopus 로고
    • Levels of hypoxanthine phosphoribosyltransferase RNA in human cells
    • Steen AM, Luthman H, Hellgren D, Lambert B. Levels of hypoxanthine phosphoribosyltransferase RNA in human cells. Exp Cell Res 186:236-244, 1990.
    • (1990) Exp Cell Res , vol.186 , pp. 236-244
    • Steen, A.M.1    Luthman, H.2    Hellgren, D.3    Lambert, B.4
  • 71
    • 0009501259 scopus 로고
    • Dependence of bone marrow cells on the liver for purine supply
    • Lajtha LG, Vane JR. Dependence of bone marrow cells on the liver for purine supply. Nature 182:191-192, 1958.
    • (1958) Nature , vol.182 , pp. 191-192
    • Lajtha, L.G.1    Vane, J.R.2
  • 72
    • 3042874850 scopus 로고
    • The biosynthesis of adenosine triphosphate and guanosine triphosphate in the rabbit erythrocyte in vivo and in vitro
    • Lowy BA, Ramot B, London JM. The biosynthesis of adenosine triphosphate and guanosine triphosphate in the rabbit erythrocyte in vivo and in vitro. J Biol Chem 235:2920-2923, 1960.
    • (1960) J Biol Chem , vol.235 , pp. 2920-2923
    • Lowy, B.A.1    Ramot, B.2    London, J.M.3
  • 73
    • 0014426530 scopus 로고
    • Adenine nucleotide metabolism of blood platelets. 3. Adenine phosphoribosyl transferase and nucleotide formation from exogenous adenine
    • Holmsen H, Rozenberg MC. Adenine nucleotide metabolism of blood platelets. 3. Adenine phosphoribosyl transferase and nucleotide formation from exogenous adenine. Biochem Biophys Acta 157:266-279, 1968.
    • (1968) Biochem Biophys Acta , vol.157 , pp. 266-279
    • Holmsen, H.1    Rozenberg, M.C.2
  • 74
    • 0014682871 scopus 로고
    • An enzymatic basis for the inability of erythrocytes to synthesize purine ribonucleotides de novo
    • Fontenelle LJ, Henderson JF. An enzymatic basis for the inability of erythrocytes to synthesize purine ribonucleotides de novo. Biochim Biophys Acta 177:175-176, 1969.
    • (1969) Biochim Biophys Acta , vol.177 , pp. 175-176
    • Fontenelle, L.J.1    Henderson, J.F.2
  • 75
    • 0014698871 scopus 로고
    • Synthesis do novo of purines in slices of rat brain and liver
    • Howard WJ, Kerson LA, Appel SH. Synthesis do novo of purines in slices of rat brain and liver. J Neurochem 17:121-123, 1970.
    • (1970) J Neurochem , vol.17 , pp. 121-123
    • Howard, W.J.1    Kerson, L.A.2    Appel, S.H.3
  • 76
    • 0018908662 scopus 로고
    • Activities of amidophosphoribosyltransferase (ec2.4.2.14) and the purine phosphoribosyltransferases (ec2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development. Their possible relationship to the neurological dysfunction in the Lesch-Nyhan syndrome
    • Allsop J, Watts RW. Activities of amidophosphoribosyltransferase (ec2.4.2.14) and the purine phosphoribosyltransferases (ec2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development. Their possible relationship to the neurological dysfunction in the Lesch-Nyhan syndrome. J Neurol Sci 46:221-232, 1980.
    • (1980) J Neurol Sci , vol.46 , pp. 221-232
    • Allsop, J.1    Watts, R.W.2
  • 77
    • 0028179419 scopus 로고
    • 5′-Flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice
    • Rincon-Limas DE, Geske RS, Xue J-J, Hsu CY, Overbeek PA, Patel PI. 5′-Flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice. J Neurosci Res 38:259-267, 1994.
    • (1994) J Neurosci Res , vol.38 , pp. 259-267
    • Rincon-Limas, D.E.1    Geske, R.S.2    Xue, J.-J.3    Hsu, C.Y.4    Overbeek, P.A.5    Patel, P.I.6
  • 78
    • 0026525505 scopus 로고
    • Localization of hypoxanthine-guanine phosphoribosyltransferase mRNA in the mouse brain by in situ hybridization
    • Jinnah HA, Hess EJ, Wilson MC, Gage FH, Friedmann T. Localization of hypoxanthine-guanine phosphoribosyltransferase mRNA in the mouse brain by in situ hybridization. Mol Cell Neurosci 3:64-78, 1992.
    • (1992) Mol Cell Neurosci , vol.3 , pp. 64-78
    • Jinnah, H.A.1    Hess, E.J.2    Wilson, M.C.3    Gage, F.H.4    Friedmann, T.5
  • 79
    • 0015403657 scopus 로고
    • Hypoxanthine-guanine-phosphoribosyl-transferase from rat brain (purification, kinetic properties, development and distribution)
    • Gutensohn W, Guroff G. Hypoxanthine-guanine-phosphoribosyl-transferase from rat brain (purification, kinetic properties, development and distribution). J Neurochem 19:2139-2150, 1972.
    • (1972) J Neurochem , vol.19 , pp. 2139-2150
    • Gutensohn, W.1    Guroff, G.2
  • 80
    • 0023679928 scopus 로고
    • Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome
    • Finger S, Heavens RP, Sirinathsinghji DJ, Kuhen MR, Dunnet SB. Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome. J Neurol Sci 86:203-213, 1988.
    • (1988) J Neurol Sci , vol.86 , pp. 203-213
    • Finger, S.1    Heavens, R.P.2    Sirinathsinghji, D.J.3    Kuhen, M.R.4    Dunnet, S.B.5
  • 83
    • 0016624545 scopus 로고
    • Localization of genes coding for PGK, HPRT, and G6PD on the long arm of the X chromosome in somatic cell hybrids
    • Shows TB, Brown JA. Localization of genes coding for PGK, HPRT, and G6PD on the long arm of the X chromosome in somatic cell hybrids. Cytogenet Cell Genet 14:426-429, 1975.
    • (1975) Cytogenet Cell Genet , vol.14 , pp. 426-429
    • Shows, T.B.1    Brown, J.A.2
  • 84
    • 0017739343 scopus 로고
    • Chromosome loss is responsible for segregation at the HPRTlocus in Chinese hamster cell hybrids
    • Farrell SA, Worton RG. Chromosome loss is responsible for segregation at the HPRTlocus in Chinese hamster cell hybrids. Somatic Cell Genet 3:359-551, 1977.
    • (1977) Somatic Cell Genet , vol.3 , pp. 359-551
    • Farrell, S.A.1    Worton, R.G.2
  • 85
    • 0018829392 scopus 로고
    • Reversion of a mutation affecting the molecular weight of HGPRT: Intragenic suppression and localization of X-linked genes
    • Fenwick RG, Jr. Reversion of a mutation affecting the molecular weight of HGPRT: Intragenic suppression and localization of X-linked genes. Somatic Cell Genet 6:477-494, 1980.
    • (1980) Somatic Cell Genet , vol.6 , pp. 477-494
    • Fenwick Jr., R.G.1
  • 86
    • 0012289477 scopus 로고
    • Comparative gene mapping: Order of loci on the X chromosome is different in mice and humans
    • Francke U, Taggart RT. Comparative gene mapping: Order of loci on the X chromosome is different in mice and humans. Proc Natl Acad Sci USA 77:3595-3599, 1980.
    • (1980) Proc Natl Acad Sci USA , vol.77 , pp. 3595-3599
    • Francke, U.1    Taggart, R.T.2
  • 87
    • 0019188929 scopus 로고
    • Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation
    • Pai GS, Sprenkle JA, Do TT, Mareni CE, Migeon BR. Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. Proc Natl Acad Sci USA 77:2810-2813, 1980.
    • (1980) Proc Natl Acad Sci USA , vol.77 , pp. 2810-2813
    • Pai, G.S.1    Sprenkle, J.A.2    Do, T.T.3    Mareni, C.E.4    Migeon, B.R.5
  • 88
    • 0023267568 scopus 로고
    • Localization of the HPR T locus by in situ hybridization and distribution of loci on the mouse X-chromosome
    • Lyon MF, Zenthon J, Burtenshaw MD, Evans EP. Localization of the HPR T locus by in situ hybridization and distribution of loci on the mouse X-chromosome. Cytogenet Cell Genet 44:163-166, 1987.
    • (1987) Cytogenet Cell Genet , vol.44 , pp. 163-166
    • Lyon, M.F.1    Zenthon, J.2    Burtenshaw, M.D.3    Evans, E.P.4
  • 90
    • 0023719111 scopus 로고
    • Characterization, evolutionary relationships, and chromosome location of processed mouse HPRT pseudogene
    • Isamat M, Macleod KF, King A, McEwan C, Melton DW. Characterization, evolutionary relationships, and chromosome location of processed mouse HPRT pseudogene. Somat Cell Mol Genet 14:359-369, 1988.
    • (1988) Somat Cell Mol Genet , vol.14 , pp. 359-369
    • Isamat, M.1    Macleod, K.F.2    King, A.3    McEwan, C.4    Melton, D.W.5
  • 92
    • 0026063696 scopus 로고
    • The Chinese hamster HPRT gene: Restriction map, sequence analysis, and multiplex PCR deletion screen
    • Rossiter BJ, Fuscoe JC, Muzny DM, Fox M, Caskey CT. The Chinese hamster HPRT gene: Restriction map, sequence analysis, and multiplex PCR deletion screen. Genomics 9:247-256, 1991.
    • (1991) Genomics , vol.9 , pp. 247-256
    • Rossiter, B.J.1    Fuscoe, J.C.2    Muzny, D.M.3    Fox, M.4    Caskey, C.T.5
  • 93
    • 0021364584 scopus 로고
    • Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene
    • Melton DW, Konecki DS, Brennand J, Caskey CT. Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene. Proc Natl Acad Sci USA 81:2147-2151, 1984.
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 2147-2151
    • Melton, D.W.1    Konecki, D.S.2    Brennand, J.3    Caskey, C.T.4
  • 95
    • 0022655644 scopus 로고
    • Fine structure of the human hypoxanthine phosphoribosyltransferase gene
    • Patel PI, Framson PE, Caskey CT, Chinault AC. Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol 6:393-403, 1986.
    • (1986) Mol Cell Biol , vol.6 , pp. 393-403
    • Patel, P.I.1    Framson, P.E.2    Caskey, C.T.3    Chinault, A.C.4
  • 96
  • 97
    • 0020986867 scopus 로고
    • Sequences controlling in vitro transcription of SV40 promoters
    • Hansen U, Sharp PA. Sequences controlling in vitro transcription of SV40 promoters. EMBO J 2:2293-2303, 1983.
    • (1983) EMBO J , vol.2 , pp. 2293-2303
    • Hansen, U.1    Sharp, P.A.2
  • 98
    • 0019363396 scopus 로고
    • Organization and expression of eucaryotic split genes coding for proteins
    • Breathnach R, Chambon P. Organization and expression of eucaryotic split genes coding for proteins. Annu Rev Biochem 50:349-383, 1981.
    • (1981) Annu Rev Biochem , vol.50 , pp. 349-383
    • Breathnach, R.1    Chambon, P.2
  • 99
    • 46149139074 scopus 로고
    • Promoter-specific activation of RNA polymerase II transcription of Sp1
    • Kadonaga JT, Jones KA, Tijian R, Promoter-specific activation of RNA polymerase II transcription of Sp1. Trends Biochem Sci 11:20-23, 1986.
    • (1986) Trends Biochem Sci , vol.11 , pp. 20-23
    • Kadonaga, J.T.1    Jones, K.A.2    Tijian, R.3
  • 100
    • 0022554043 scopus 로고
    • Expression of the mouse HPRT gene: Deletional analysis of the promoter region of an X-chromosome linked housekeeping gene
    • Melton DW, McEwan C, McKie AB, Reid AM. Expression of the mouse HPRT gene: Deletional analysis of the promoter region of an X-chromosome linked housekeeping gene. Cell 44:319-328, 1986.
    • (1986) Cell , vol.44 , pp. 319-328
    • Melton, D.W.1    McEwan, C.2    McKie, A.B.3    Reid, A.M.4
  • 101
    • 0019510628 scopus 로고
    • Reactivation of an inactive human X chromosome: Evidence for X inactivation by DNA methylation
    • Mohandas T, Sparkes RS, Shapiro LJ. Reactivation of an inactive human X chromosome: Evidence for X inactivation by DNA methylation. Science 211:393-396, 1981.
    • (1981) Science , vol.211 , pp. 393-396
    • Mohandas, T.1    Sparkes, R.S.2    Shapiro, L.J.3
  • 102
    • 0020436347 scopus 로고
    • 5-azacytidine-induced re-expression of alleles on the inactive X chromosome in a hybrid mouse cell line
    • Graves JAM. 5-azacytidine-induced re-expression of alleles on the inactive X chromosome in a hybrid mouse cell line. Exp Cell Res 141:99-105, 1982.
    • (1982) Exp Cell Res , vol.141 , pp. 99-105
    • Graves, J.A.M.1
  • 103
    • 0021042149 scopus 로고
    • Coreactivation of four inactive X genes in a hamster x human hybrid and persistence of late replication of reactivated X chromosome
    • Hors-Cayala MC, Heuertz S, Frezal J. Coreactivation of four inactive X genes in a hamster x human hybrid and persistence of late replication of reactivated X chromosome. Somatic Cell Genet 9:645-657, 1983.
    • (1983) Somatic Cell Genet , vol.9 , pp. 645-657
    • Hors-Cayala, M.C.1    Heuertz, S.2    Frezal, J.3
  • 104
    • 0022253096 scopus 로고
    • X chromosome reactivation in mouse embryonal carcinoma cells
    • Paterno GD, Adra CN, McBurney MW. X chromosome reactivation in mouse embryonal carcinoma cells. Mol Cell Biol 5:2705-2712, 1985.
    • (1985) Mol Cell Biol , vol.5 , pp. 2705-2712
    • Paterno, G.D.1    Adra, C.N.2    McBurney, M.W.3
  • 105
    • 0022627499 scopus 로고
    • Methylation of the mouse HPRT gene differs on the active and inactive X chromosomes
    • Lock LF, Melton DW, Caskey CT, Martin GR. Methylation of the mouse HPRT gene differs on the active and inactive X chromosomes. Mol Cell Biol 6:914-924, 1986.
    • (1986) Mol Cell Biol , vol.6 , pp. 914-924
    • Lock, L.F.1    Melton, D.W.2    Caskey, C.T.3    Martin, G.R.4
  • 106
    • 0028097981 scopus 로고
    • High-resolution methylation analysis of the human hypoxanthine phosphoribosyltransferase gene 5′ region on the active an inactive X chromosomes: Correlation with binding sites for transcription factors
    • Hornstra IK, Yang TP. High-resolution methylation analysis of the human hypoxanthine phosphoribosyltransferase gene 5′ region on the active an inactive X chromosomes: Correlation with binding sites for transcription factors. Mol Cell Biol 14:1419-1430, 1994.
    • (1994) Mol Cell Biol , vol.14 , pp. 1419-1430
    • Hornstra, I.K.1    Yang, T.P.2
  • 107
    • 0028051528 scopus 로고
    • CpG island promoter region methylation patterns of the inactive-X-chromosome hypoxanthine phosphoribosyltransferase (HPRT) gene
    • Park JG, Chapman VM. CpG island promoter region methylation patterns of the inactive-X-chromosome hypoxanthine phosphoribosyltransferase (HPRT) gene. Mol Cell Biol 14:7975-7983, 1994.
    • (1994) Mol Cell Biol , vol.14 , pp. 7975-7983
    • Park, J.G.1    Chapman, V.M.2
  • 109
    • 0027960055 scopus 로고
    • Sp1 sites in the mouse APRT gene promoter are required to prevent methylation of the CpG island
    • Macleod D, Charlton J, Mullins J, Bird AP. Sp1 sites in the mouse APRT gene promoter are required to prevent methylation of the CpG island. Genes Dev 8:2282-2292, 1994.
    • (1994) Genes Dev , vol.8 , pp. 2282-2292
    • Macleod, D.1    Charlton, J.2    Mullins, J.3    Bird, A.P.4
  • 110
    • 0024121584 scopus 로고
    • Cytosine methylation does not affect binding of transcription factor Sp1
    • Harrington MA, Jones PA, Imagawa M, Karin M. Cytosine methylation does not affect binding of transcription factor Sp1. Proc Natl Acad Sci USA 85:2066-2270, 1988.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 2066-2270
    • Harrington, M.A.1    Jones, P.A.2    Imagawa, M.3    Karin, M.4
  • 111
    • 0024083068 scopus 로고
    • Sp1 transcription factor binds DNA and activates transcription even when the binding site is CpG methylated
    • Holler M, Westin G, Jiricny J, Schaffner W. Sp1 transcription factor binds DNA and activates transcription even when the binding site is CpG methylated. Genes Dev 2:1127-1135, 1988.
    • (1988) Genes Dev , vol.2 , pp. 1127-1135
    • Holler, M.1    Westin, G.2    Jiricny, J.3    Schaffner, W.4
  • 112
    • 0027245556 scopus 로고
    • Methylation-enhanced binding of Sp1 to the stage selector element of the human γ-globin gene promoter may regulate development specificity of expression
    • Jane SM, Gumucio DL, Ney PA, Cunningham JM, Nienhuis AW. Methylation-enhanced binding of Sp1 to the stage selector element of the human γ-globin gene promoter may regulate development specificity of expression. Mol Cell Biol 13:3272-3281, 1993.
    • (1993) Mol Cell Biol , vol.13 , pp. 3272-3281
    • Jane, S.M.1    Gumucio, D.L.2    Ney, P.A.3    Cunningham, J.M.4    Nienhuis, A.W.5
  • 113
    • 0026445509 scopus 로고
    • Multiple in vivo footprints are specific to the active allele of the X-linked human hypoxanthine phosphoribosyltransferase gene 5′ region: Implications for X chromosome inactivation
    • Hornstra IK, Yang TP. Multiple in vivo footprints are specific to the active allele of the X-linked human hypoxanthine phosphoribosyltransferase gene 5′ region: Implications for X chromosome inactivation. Mol Cell Biol 12:5345-5354, 1992.
    • (1992) Mol Cell Biol , vol.12 , pp. 5345-5354
    • Hornstra, I.K.1    Yang, T.P.2
  • 114
    • 0028811342 scopus 로고
    • Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene
    • Rincon-Limas DE, Amaya-Manzanares F, Nino-Rosales ML, Yu Y, Yang TP, Patel PI. Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol 15:6561-6571, 1995.
    • (1995) Mol Cell Biol , vol.15 , pp. 6561-6571
    • Rincon-Limas, D.E.1    Amaya-Manzanares, F.2    Nino-Rosales, M.L.3    Yu, Y.4    Yang, T.P.5    Patel, P.I.6
  • 115
    • 1042272175 scopus 로고
    • Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: Implications for X-chromosome inactivation
    • Wolf SF, Jolly DJ, Lunnen KD, Friedmann T, Migeon BR. Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: Implications for X-chromosome inactivation. Proc Natl Acad Sci USA 81:2806-2810, 1984.
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 2806-2810
    • Wolf, S.F.1    Jolly, D.J.2    Lunnen, K.D.3    Friedmann, T.4    Migeon, B.R.5
  • 117
    • 0023657424 scopus 로고
    • Methylation of the HPRT gene on the inactive X occurs after chromosome inactivation
    • Lock LF, Takagi N, Martin GR. Methylation of the HPRT gene on the inactive X occurs after chromosome inactivation. Cell 48:39-46, 1987.
    • (1987) Cell , vol.48 , pp. 39-46
    • Lock, L.F.1    Takagi, N.2    Martin, G.R.3
  • 118
    • 0025031568 scopus 로고
    • Use of a HpaII-polymerase chain reaction assay to study DNA methylation in the PGK-1 CpG island of mouse embryos at the time of X-chromosome inactivation
    • Singer-Sam J, Grant M, LeBon JM, Okuyama K, Chapman V, Monk M, Riggs AD. Use of a HpaII-polymerase chain reaction assay to study DNA methylation in the PGK-1 CpG island of mouse embryos at the time of X-chromosome inactivation. Mol Cell Biol 10:4987-4989, 1990.
    • (1990) Mol Cell Biol , vol.10 , pp. 4987-4989
    • Singer-Sam, J.1    Grant, M.2    LeBon, J.M.3    Okuyama, K.4    Chapman, V.5    Monk, M.6    Riggs, A.D.7
  • 119
    • 0026937117 scopus 로고
    • Methylation of CpG sites of two X-linked genes coincides with X-inactivation in the female mouse embryo but not in the germ line
    • Grant M, Zuccotti M, Monk M. Methylation of CpG sites of two X-linked genes coincides with X-inactivation in the female mouse embryo but not in the germ line. Nature Genet 2:161-166, 1992.
    • (1992) Nature Genet , vol.2 , pp. 161-166
    • Grant, M.1    Zuccotti, M.2    Monk, M.3
  • 120
    • 0026748298 scopus 로고
    • The X chromosome in development in mouse and man
    • Monk M. The X chromosome in development in mouse and man. J Inherit Metab Dis 15:499-513, 1992.
    • (1992) J Inherit Metab Dis , vol.15 , pp. 499-513
    • Monk, M.1
  • 121
    • 0027131878 scopus 로고
    • The minimal self-sufficient element in a murine G + C-rich promoter is a large element with imperfect dyad symmetry
    • Ackerman SL, Minden AG, Yeung CY. The minimal self-sufficient element in a murine G + C-rich promoter is a large element with imperfect dyad symmetry. Proc Natl Acad Sci USA 90:11865-11869, 1993.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 11865-11869
    • Ackerman, S.L.1    Minden, A.G.2    Yeung, C.Y.3
  • 122
    • 0025309404 scopus 로고
    • Regulatory elements in the introns of the human HPRT gene are necessary for its expression in embryonic stem cells
    • Reid LH, Gregg RG, Smithies O, Koller BH. Regulatory elements in the introns of the human HPRT gene are necessary for its expression in embryonic stem cells. Proc Natl Acad Sci USA 87:4299-4303, 1990.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 4299-4303
    • Reid, L.H.1    Gregg, R.G.2    Smithies, O.3    Koller, B.H.4
  • 123
    • 0025880341 scopus 로고
    • Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter. Evidence for a negative regulatory element
    • Rincon-Limas D, Krueger D, Patel Pl. Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter. Evidence for a negative regulatory element. Mol Cell Biol 11:4157-4164, 1991.
    • (1991) Mol Cell Biol , vol.11 , pp. 4157-4164
    • Rincon-Limas, D.1    Krueger, D.2    Pl, P.3
  • 124
    • 0025295251 scopus 로고
    • Limited bidirectional activity of two housekeeping gene promoters: Human HPRT and PGK
    • Johnson P, Friedmann T. Limited bidirectional activity of two housekeeping gene promoters: Human HPRT and PGK. Gene 88:207-213, 1990.
    • (1990) Gene , vol.88 , pp. 207-213
    • Johnson, P.1    Friedmann, T.2
  • 125
    • 0023947899 scopus 로고
    • Evidence for positive and negative regulation in the promoter of the chicken δ1-crystallin gene
    • Borras T, Peterson CA, Piatigorsky J. Evidence for positive and negative regulation in the promoter of the chicken δ1-crystallin gene. Dev Biol 127:209-219, 1988.
    • (1988) Dev Biol , vol.127 , pp. 209-219
    • Borras, T.1    Peterson, C.A.2    Piatigorsky, J.3
  • 126
    • 0025002967 scopus 로고
    • Patterns of expression of position-dependent integrated transgenes in mouse embryo
    • Bonnerot C, Grimber G, Briand P, Nicolas JF. Patterns of expression of position-dependent integrated transgenes in mouse embryo. Proc Natl Acad Sci USA 87:6331-6335, 1990.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 6331-6335
    • Bonnerot, C.1    Grimber, G.2    Briand, P.3    Nicolas, J.F.4
  • 127
    • 0023150598 scopus 로고
    • HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells
    • Hooper M, Hardy K, Handyside A, Hunter S, Monk M. HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature 326:292-295, 1987.
    • (1987) Nature , vol.326 , pp. 292-295
    • Hooper, M.1    Hardy, K.2    Handyside, A.3    Hunter, S.4    Monk, M.5
  • 128
    • 0023090920 scopus 로고
    • A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice
    • Kuehn MR, Bradley A, Robertson EJ, Evans MJ. A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Nature 326:295-298, 1987.
    • (1987) Nature , vol.326 , pp. 295-298
    • Kuehn, M.R.1    Bradley, A.2    Robertson, E.J.3    Evans, M.J.4
  • 130
    • 84979139586 scopus 로고
    • The biological significance of uric acid and guanine excretion
    • Keilin J. The biological significance of uric acid and guanine excretion. Biol Rev 34:265-296, 1959.
    • (1959) Biol Rev , vol.34 , pp. 265-296
    • Keilin, J.1
  • 131
    • 0027461605 scopus 로고
    • Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice
    • Wu CL, Melton DW. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Nat Genet 3:235-240, 1993.
    • (1993) Nat Genet , vol.3 , pp. 235-240
    • Wu, C.L.1    Melton, D.W.2
  • 132
    • 0022638233 scopus 로고
    • Skeletal muscle pathology in X chromosome-linked muscular dystrophy (mdx) mouse
    • Tanabe Y, Esaki K, Nomura T. Skeletal muscle pathology in X chromosome-linked muscular dystrophy (mdx) mouse. Acta Neuropathol 69:91-95, 1986.
    • (1986) Acta Neuropathol , vol.69 , pp. 91-95
    • Tanabe, Y.1    Esaki, K.2    Nomura, T.3
  • 133
    • 0023091942 scopus 로고
    • The mutant mdx: Inherited myopathy in the mouse. Morphological studies of nerves, muscles and end-plates
    • Torres LF, Duchen LW. The mutant mdx: Inherited myopathy in the mouse. Morphological studies of nerves, muscles and end-plates. Brain 110:269-299, 1987.
    • (1987) Brain , vol.110 , pp. 269-299
    • Torres, L.F.1    Duchen, L.W.2
  • 134
    • 0026008651 scopus 로고
    • δ, a transcription factor that binds to downstream elements in several polymerase II promoters, is a functionally versatile zinc finger protein
    • Hariharan N, Kelley DE, Perry RP. δ, a transcription factor that binds to downstream elements in several polymerase II promoters, is a functionally versatile zinc finger protein. Proc Natl Acad Sci USA 88:9799-9803, 1991.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 9799-9803
    • Hariharan, N.1    Kelley, D.E.2    Perry, R.P.3
  • 135
    • 0025967764 scopus 로고
    • Common factor 1 is a transcriptional activator which binds in the c-myc promoter, the skeletal α-actin promoter, and the immunoglobulin heavy-chain enhancer
    • Riggs KJ, Merrell KT, Wilson G, Calame K. Common factor 1 is a transcriptional activator which binds in the c-myc promoter, the skeletal α-actin promoter, and the immunoglobulin heavy-chain enhancer. Mol Cell Biol 11:1765-1769, 1991.
    • (1991) Mol Cell Biol , vol.11 , pp. 1765-1769
    • Riggs, K.J.1    Merrell, K.T.2    Wilson, G.3    Calame, K.4
  • 136
    • 0026508808 scopus 로고
    • Compilation of vertebrate-encoded transcription factors
    • Faisst S, Meyer S. Compilation of vertebrate-encoded transcription factors. Nucleic Acids Res 20:3-26, 1992.
    • (1992) Nucleic Acids Res , vol.20 , pp. 3-26
    • Faisst, S.1    Meyer, S.2
  • 138
    • 0028639172 scopus 로고
    • An analysis of genes regulated by the multi-functional transcriptional regulator Yin Yang-1
    • Shrivastava A, Calame K. An analysis of genes regulated by the multi-functional transcriptional regulator Yin Yang-1, Nucleic Acids Res 22:5151-5155, 1994.
    • (1994) Nucleic Acids Res , vol.22 , pp. 5151-5155
    • Shrivastava, A.1    Calame, K.2
  • 140
    • 0026657069 scopus 로고
    • Displacement of BrdUrd-induced YY1 by serum response factors activates skeletal α-actin transcription in embryonic myoblasts
    • Lee TC, Shi Y, Schwartz RJ. Displacement of BrdUrd-induced YY1 by serum response factors activates skeletal α-actin transcription in embryonic myoblasts. Proc Natl Acad Sci USA 89:9814-9818, 1992.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 9814-9818
    • Lee, T.C.1    Shi, Y.2    Schwartz, R.J.3
  • 141
    • 0026094487 scopus 로고
    • TCF-1, a T cell-specific transcription factor of the HMG box family, interacts with sequence motifs in the TCRβ and TCRδ enhancers
    • Oosterwegel MA, van de Wetering ML, Holstege FC, Prosser HM, Owen MJ, Clevers HC. TCF-1, a T cell-specific transcription factor of the HMG box family, interacts with sequence motifs in the TCRβ and TCRδ enhancers. Int Immunol 3:1189-1192, 1991.
    • (1991) Int Immunol , vol.3 , pp. 1189-1192
    • Oosterwegel, M.A.1    Van De Wetering, M.L.2    Holstege, F.C.3    Prosser, H.M.4    Owen, M.J.5    Clevers, H.C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.